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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
Nail Disease
Alias:
Nail Diseases
Abnormality of the Nail
Nail Anomaly
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
指甲疾病,也被称为指甲异常,与甲真菌病和银屑病有关 11,其症状包括皮疹、瘙痒和指甲杵状肥大。与指甲疾病相关的重要基因是FZD6(Frizzled Class Receptor 6),其相关通路/超级通路包括先天免疫系统和ERK信号通路。在该疾病的背景下提到了药物他扎罗汀和聚六亚甲基双胍。附属组织包括皮肤和肺,相关表型包括减少的乳腺泡形成和稳态/代谢。
Related ID:
MALACARDS:NLD001
MESH:D009260
ICD11:1851131352/other
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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39
496
3
NLD001
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
#
Gene
Function
Score
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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